Isolated focal cortical dysplasia
ORPHA:65683DiseaseAll ages
Фенотипы (HPO)21
Очень частый (80–99%)5
HP:0000707Abnormality of the nervous system
HP:0001250Seizure
HP:0002361Psychomotor deterioration
HP:0012757Abnormal neuron morphology
HP:0410263Brain imaging abnormality
Частый (30–79%)10
HP:0000708Atypical behavior
HP:0001256Intellectual disability, mild
HP:0001269Hemiparesis
HP:0002384Focal impaired awareness seizure
HP:0002536Abnormal cortical gyration
HP:0006891Thick cerebral cortex
HP:0007359Focal-onset seizure
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0031951Nocturnal seizures
HP:0100543Cognitive impairment
Периодический (5–29%)6
HP:0002197Generalized-onset seizure
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0010864Intellectual disability, severe
HP:0011097Epileptic spasm
HP:0012469Infantile spasms
HP:0025170Neuronal/glioneuronal neoplasm of the central nervous system
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)